title: Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy.
abstract: BACKGROUND
  Griscelli syndrome type 2 (GS2), the X-linked lymphoproliferative (XLP) and the Chédiak-Higashi (CHS) syndromes are diseases that all may develop hemophagocytic syndromes. We wanted to investigate whether the treatment protocols for hemophagocytic lymphohistiocytosis (HLH) can also be used for these syndromes.
  
  
  METHODS
  In the HLH-94/HLH-2004 treatment study registries, we evaluated all patients with GS2 (n = 5), XLP (n = 2) or CHS (n = 2) treated between 1994 and 2004.
  
  
  RESULTS
  All patients responded to the therapy, and all are alive but one (suffering from CHS), with a mean follow-up of 5.6 years. All GS2, one XLP and one CHS patient underwent hematopoietic stem cell transplant. Mean follow-up post transplant was 6.0 years. Six of the seven transplanted children achieved non-active disease status at the time for SCT. Neurological sequelae were reported in all, except for the XLP patients.
  
  
  CONCLUSIONS
  Our results indicate that HLH treatment can be an effective first line treatment to induce remission in patients with GS2, XLP and CHS that have developed a hemophagocytic syndrome. We suggest that these patients should be included as a separate cohort in the international HLH study.
authors.affiliation: Childhood Cancer Research Unit, Karolinska University Hospital, Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden. Helena.Trottestam@ki.se
authors.forename: Helena
authors.initials: H
authors.lastname: Trottestam
authors.forename: Karin
authors.initials: K
authors.lastname: Beutel
authors.forename: Marie
authors.initials: M
authors.lastname: Meeths
authors.forename: Niels
authors.initials: N
authors.lastname: Carlsen
authors.forename: Carsten
authors.initials: C
authors.lastname: Heilmann
authors.forename: Srdjan
authors.initials: S
authors.lastname: Pasić
authors.forename: David
authors.initials: D
authors.lastname: Webb
authors.forename: Henrik
authors.initials: H
authors.lastname: Hasle
authors.forename: Jan-Inge
authors.initials: JI
authors.lastname: Henter
mesh_terms: D000293:Adolescent; D002609:Chediak-Higashi Syndrome; D002648:Child; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000628:therapy*; D008232:Lymphoproliferative Disorders / Q000628:therapy*; D008297:Male; D012042:Registries; D012074:Remission Induction; D012189:Retrospective Studies; D015996:Survival Rate; D016896:Treatment Outcome